Target intelligence / Profile preview

Zinc finger C2HC-type containing protein 1C (ZC2HC1C)

Target
ZC2HC1C
Molecular classification
Zinc finger protein, Transcription factor-related (but not directly shown to function as such in all contexts), Other (C2HC/C3H domain-containing protein)
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Overview

Zinc finger C2HC-type containing protein 1C (ZC2HC1C) is a protein-coding gene most abundantly expressed in testicular tissue and secondarily in specific brain regions, including the choroid plexus and midbrain. The protein contains a non-classical zinc finger domain (C2HC/C3H-type), which is distinct from the more common C2H2-type, and is believed to bind metal ions, particularly zinc. ZC2HC1C has been implicated in the regulation of gene expression, primary cilia development, and is suggested to operate in gene regulatory roles by analogy to other zinc finger proteins. Mutations in ZC2HC1C have been reported as possibly pathogenic in autism spectrum disorder through loss of function in neuronal tissues and may affect primary cilia development, a process linked to several neurodevelopmental conditions. While its function is still being elucidated, studies suggest ZC2HC1C has significant protein-protein interactions in ciliary transport processes, and its dysfunction may contribute to neurodevelopmental pathologies. However, it is not currently recognized as a therapeutic target, and there are no known drugs, biomarkers, or safety concerns directly associated with ZC2HC1C.

Other names
C14orf140FAM164Cfamily with sequence similarity 164, member Cprotein FAM164Czinc finger C2HC domain-containing protein 1C
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Mechanism of action

Not applicable (no drugs known to target this molecule)

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Biological functions

Predicted: metal ion (zinc) bindingImplicated in gene expression regulationImplicated in primary cilia developmentMay play roles in neurodevelopment: cell proliferation, differentiation, apoptosis (supported by the general function of zinc finger proteins)
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Disease associations

Autism spectrum disorder (ASD) risk/susceptibility gene (rare, based on mutation studies, not established as a major ASD gene)Diamond-Blackfan anemia 4 (associative)Histiocytoid hemangioma (associative)Neurodevelopmental disease (potentially, due to cilia development and brain expression)
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Safety considerations

Not applicable (not a therapeutic target)
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Interacting drugs

None known
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Biomarkers

None established

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